"A defective gene has been mapped to chromosome 3q21–q23 5."
"Patients often have pigmentation of the auricular cartilages and sclera. Urine colour tends to be dark (at birth, sometimes diagnosed by discolouration of nappies). Up to 25% of patients with alkaptonuria do not have the characteristic dark urine staining; many patients remain undiagnosed until adulthood."
Expected headings
"Vertebral"
"Joints"
"Complications"
"Patients often have pigmentation of the auricular cartilages and sclera. Urine colour tends to be dark (at birth, sometimes diagnosed by discolouration of nappies). Up to 25% of patients with alkaptonuria do not have the characteristic dark urine staining; many patients remain undiagnosed until adulthood."
"most commonly in the knee joint; however, the shoulder, the hip and other joints can also be involved"
"There is a broad differential for intervertebral disc calcification."